Amenorrhoea Flashcards
List the broad categories of causes of amenorrhoea
- Hypothalamic
- Pituitary
- Ovarian
- Anatomical
- Secondary to systemic disorders
For central causes of amenorrhoea:
Is breast development absent or present?
Is FSH level low or high?
List differentials for central causes.
Central causes of amenorrhoea:
- Breast development absent
- FSH is low
Differentials:
- Panhypopituitarism
- Pituitary adenoma/prolactinoma
- CNS tumour, hydrocephalus or trauma
- Kallman’s syndrome
- Constitutional
- Chronic illness
- Anorexia
- Excessive exercise
For gonadal causes of amenorrhoea:
Is breast development absent or present?
Is FSH level low or high?
List differentials for gonadal causes.
Gonadal causes of amenorrhoea:
- Breast development is absent.
- FSH is high.
Differentials:
- Turner syndrome (gonadal dysgenesis)
- Swyer syndrome (46XY)
- Primary ovarian failure secondary to: galactosaemia, chemotherapy, infection, autoimmune
- Surgical removal
For arrested puberty causes of amenorrhoea:
Is breast development absent or present?
Is FSH level low or high?
List differentials for arrested puberty causes.
Arrested puberty:
- Breast development normal
- FSH is high
Differentials:
- CAIS
- Primary ovarian failure
For anatomical causes of amenorrhoea:
Is breast development absent or present?
Is FSH level low or high?
List differentials for anatomical causes.
Anatomical causes:
- Breast development is normal.
- FSH is normal.
Differentials:
- MRKH
- Imperforate hymen
- Obstructed hemivagina
- Vaginal agenesis
- Cervical agenesis
Secondary causes of amenorrhoea:
In addition to the primary causes of amenorrhoea, list additional secondary causes of amenorrhea
Pregnancy!
Anatomical:
- Intrauterine adhesions
- Cervical stenosis
- Tuberculous endometritis
Central:
- Sheehan’s syndrome
- TB, sarcoidosis
Gonadal:
- Ovarian antibodies/autoimmune
- Chemo and radiation therapy.
Systemic: chronic disease including Cushing’s disease, diabetes, thyroid disease, renal failure, liver disease
Drugs:
- Dopamine antagonists e.g. domperidone, metoclopramide, phenothiazine
Investigations for secondary amenorrhoea:
Describe what test you would use to help assess the presence of endogenous oestrogen?
Progestin withdrawal test:
- MPA 10 mg daily for 10 days then withdraw.
- Bleeding confirms endogenous oestrogen exposure.
Investigations for secondary amenorrhoea:
If you suspected endometrial scarring at the cause, what investigations could you do to confirm this?
- Progestin withdrawal test: if not bleeding, proceed with hysteroscopy.
Turner syndrome:
What is the incidence of Turner syndrome?
1 : 2000 live female births
Turner syndrome:
What karyotypes can you get with Turner syndrome?
45XO 45% caused by loss of or all of an X chromosome.
45XO with mosaicism 50%:
- 45XO/46XX, 45XO/47XXX
- Caused by sex chromosome non-disjunction during postzygotic cell division and usually milder phenotype.
45XO with Y chromosome mosaicism 45XO/46XY:
- Phenotype ranges from normal Turner to ambiguous genitalia to normal male phenotype with infertility
Turner syndrome:
What are the skeletal features?
○ Short stature, growth failure ○ Increased upper to lower segment ratio ○ Widely spaced nipples, shield chest ○ Micrognathia ○ Cubitus valgus.
Turner syndrome:
What are the features associated with lymphatic obstruction?
○ Webbed neck
○ Low posterior hairline
○ Rotated earlobes
○ Oedema of hands and feet
Turner syndrome:
What are the:
- Cardiac malformations
- Germ cell chromosomal defects
Cardiac malformations:
- Aortic coarctation
- Bicuspid aortic valve
- Elongated transverse aortic arch
Germ cell chromosomal defects:
- Ovarian failure: no breast development, amenorrhoea
- Infertility
- Gonadoblastoma if Y material
Turner syndrome:
What are the other medical issues they may have?
- Autoimmune
- Renal: horseshoe kidney, collecting system malformations
- Ears: recurrent OM, hearing loss
- Eye issues
- Skin: multiple pigmented naevi
Turner syndrome:
What investigations would you order in a work up for Turner syndrome and why?
• Karyotype +/- FISH for Y chromosome material
• Screening for:
○ Diabetes: blood glucose
○ Fatty liver: LFTs
○ Kidney dysfunction: Cr, urinalysis
• Renal USS for renal tract abnormalities
• Echocardiogram or MRI for cardiac malformations
• Autoimmune screening: TSH, tissue transglutaminase for Coeliac
